NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
NM_198586.3(NHLRC1):c.468del (p.Gly158fs)
|
rs757954108
|
0.00006
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His)
|
rs750465793
|
0.00001
|
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)
|
rs28940575
|
0.00001
|
NC_000006.11:g.(?_18121650)_(18149358_?)del
|
|
|
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)
|
rs1204045237
|
|
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)
|
rs796052424
|
|
NM_005670.4(EPM2A):c.322del (p.Arg108fs)
|
rs2128614455
|
|
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)
|
rs587776553
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)
|
rs587776554
|
|
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)
|
rs78324544
|
|
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
|
|
|
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
|
|
|
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)
|
rs1783750860
|
|
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs)
|
rs1217276014
|
|
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
|
rs1157872508
|
|
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
|
|
|
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
|
|
|
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
|
|
|
NM_198586.3(NHLRC1):c.583del (p.Asp195fs)
|
rs2150703022
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|
NM_198586.3(NHLRC1):c.612del (p.Phe204fs)
|
rs1171412241
|
|
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs)
|
rs2150702964
|
|
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)
|
rs750055958
|
|
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
|
|
|
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)
|
rs121917875
|
|
NM_198586.3(NHLRC1):c.799del (p.Val267fs)
|
rs1362520746
|
|
NM_198586.3(NHLRC1):c.799dup (p.Val267fs)
|
rs1362520746
|
|
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer)
|
rs1193841505
|
|
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)
|
rs137852859
|
|
NM_198586.3(NHLRC1):c.992del (p.Gly331fs)
|
rs587776543
|
|